Canonical Allele Identifier: CA369865437

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150974759-G-T
• MyVariant Identifiers: chr7:g.150671847G>T (hg19) ; chr7:g.150974759G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974759G>T , CM000669.2:g.150974759G>T	GRCh38
NC_000007.13:g.150671847G>T , CM000669.1:g.150671847G>T	GRCh37
NC_000007.12:g.150302780G>T	NCBI36
NG_008916.1:g.8168C>A , LRG_288:g.8168C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.259C>A MANE Select	ENSP00000262186.5:p.Leu87Met
ENST00000262186.9:c.259C>A	ENSP00000262186.5:p.Leu87Met
ENST00000430723.4:c.82C>A	ENSP00000387657.4:p.Leu28Met
ENST00000532957.5:n.482C>A
NM_000238.3:c.259C>A , LRG_288t1:c.259C>A	NP_000229.1:p.Leu87Met
NM_172056.2:c.259C>A , LRG_288t2:c.259C>A	NP_742053.1:p.Leu87Met
XM_011516186.1:c.259C>A	XP_011514488.1:p.Leu87Met
XM_011516186.3:c.259C>A	XP_011514488.1:p.Leu87Met
XM_017012196.1:c.82C>A	XP_016867685.1:p.Leu28Met
NM_000238.4:c.259C>A MANE Select	NP_000229.1:p.Leu87Met